Incidental Mutation 'R1972:Ppp2r3d'
| ID |
221103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r3d
|
| Ensembl Gene |
ENSMUSG00000093803 |
| Gene Name |
protein phosphatase 2 (formerly 2A), regulatory subunit B'', delta |
| Synonyms |
Ppp2r3, PR59, Ppp2r3a |
| MMRRC Submission |
039985-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R1972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101088976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 449
(F449S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075941]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075941
AA Change: F449S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: F449S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
|
Blast:EFh
|
760 |
789 |
1e-9 |
BLAST |
|
Pfam:EF-hand_7
|
902 |
1000 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191226
|
| Meta Mutation Damage Score |
0.0691 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
A |
G |
8: 112,717,050 (GRCm39) |
|
probably benign |
Het |
| Bbs2 |
A |
G |
8: 94,807,805 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
C |
3: 97,114,518 (GRCm39) |
D1035E |
probably damaging |
Het |
| Bmpr2 |
A |
G |
1: 59,852,762 (GRCm39) |
E31G |
possibly damaging |
Het |
| Borcs5 |
A |
G |
6: 134,687,137 (GRCm39) |
D164G |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,791,375 (GRCm39) |
R181G |
probably damaging |
Het |
| Ccdc113 |
A |
T |
8: 96,264,874 (GRCm39) |
H128L |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Chat |
C |
T |
14: 32,146,148 (GRCm39) |
V342I |
probably benign |
Het |
| Chrm4 |
C |
T |
2: 91,757,838 (GRCm39) |
A82V |
probably benign |
Het |
| Cyp2d22 |
A |
T |
15: 82,260,028 (GRCm39) |
M52K |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,039,014 (GRCm39) |
V54A |
probably benign |
Het |
| Dgka |
C |
T |
10: 128,556,335 (GRCm39) |
G717D |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 30,987,348 (GRCm39) |
W3550* |
probably null |
Het |
| Eif2ak1 |
A |
G |
5: 143,821,532 (GRCm39) |
T283A |
probably benign |
Het |
| Entrep2 |
A |
T |
7: 64,425,516 (GRCm39) |
I192N |
possibly damaging |
Het |
| Fcgbp |
A |
T |
7: 27,793,617 (GRCm39) |
Y1173F |
probably benign |
Het |
| Flt1 |
G |
A |
5: 147,591,903 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,438,216 (GRCm39) |
K647R |
probably benign |
Het |
| Gsdma2 |
T |
C |
11: 98,541,744 (GRCm39) |
V157A |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,001,794 (GRCm39) |
I884F |
probably damaging |
Het |
| Ift56 |
C |
A |
6: 38,387,738 (GRCm39) |
N396K |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,459,177 (GRCm39) |
E776G |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,604,036 (GRCm39) |
S235P |
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,991,235 (GRCm39) |
|
probably null |
Het |
| Isoc2a |
T |
A |
7: 4,895,086 (GRCm39) |
D171E |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kcnk12 |
T |
C |
17: 88,104,560 (GRCm39) |
D108G |
possibly damaging |
Het |
| Klra9 |
A |
T |
6: 130,159,345 (GRCm39) |
|
probably null |
Het |
| Lgmn |
A |
G |
12: 102,362,080 (GRCm39) |
|
probably benign |
Het |
| Morf4l1 |
A |
T |
9: 89,977,267 (GRCm39) |
|
probably benign |
Het |
| Mthfr |
T |
C |
4: 148,136,384 (GRCm39) |
I380T |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,387,404 (GRCm39) |
I436V |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,349,278 (GRCm39) |
V1350A |
probably damaging |
Het |
| Neil2 |
A |
T |
14: 63,423,526 (GRCm39) |
C36S |
possibly damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,164,753 (GRCm39) |
V897A |
probably benign |
Het |
| Nod2 |
A |
T |
8: 89,379,501 (GRCm39) |
M8L |
probably damaging |
Het |
| Nop2 |
A |
G |
6: 125,111,602 (GRCm39) |
T112A |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,345,785 (GRCm39) |
T608S |
probably damaging |
Het |
| Nuak2 |
A |
T |
1: 132,258,340 (GRCm39) |
H257L |
probably damaging |
Het |
| Or10x1 |
T |
C |
1: 174,197,136 (GRCm39) |
F218L |
probably benign |
Het |
| Or2ag12 |
T |
C |
7: 106,277,426 (GRCm39) |
D89G |
probably benign |
Het |
| Or4c113 |
A |
T |
2: 88,884,891 (GRCm39) |
M293K |
probably benign |
Het |
| Or52e8 |
T |
C |
7: 104,625,106 (GRCm39) |
I33V |
possibly damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,182,476 (GRCm39) |
V35D |
probably damaging |
Het |
| Or5b119 |
T |
C |
19: 13,457,058 (GRCm39) |
N168S |
probably benign |
Het |
| Or8b40 |
T |
A |
9: 38,027,863 (GRCm39) |
M257K |
possibly damaging |
Het |
| Pde1a |
T |
C |
2: 79,696,065 (GRCm39) |
E358G |
probably damaging |
Het |
| Pdlim1 |
A |
T |
19: 40,211,581 (GRCm39) |
S237R |
probably damaging |
Het |
| Pithd1 |
T |
C |
4: 135,714,340 (GRCm39) |
D36G |
probably damaging |
Het |
| Prr11 |
G |
A |
11: 86,989,580 (GRCm39) |
R264C |
possibly damaging |
Het |
| Rbm43 |
A |
T |
2: 51,815,548 (GRCm39) |
H224Q |
probably benign |
Het |
| Rfx5 |
C |
T |
3: 94,864,603 (GRCm39) |
L250F |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,103,982 (GRCm39) |
I160L |
probably benign |
Het |
| Rorb |
T |
A |
19: 18,929,567 (GRCm39) |
Q393H |
probably damaging |
Het |
| Rpl13a |
T |
A |
7: 44,775,419 (GRCm39) |
K368* |
probably null |
Het |
| Scaf8 |
T |
G |
17: 3,219,646 (GRCm39) |
S276R |
unknown |
Het |
| Scube2 |
A |
T |
7: 109,408,421 (GRCm39) |
N675K |
probably benign |
Het |
| Sec22c |
A |
T |
9: 121,517,320 (GRCm39) |
M126K |
possibly damaging |
Het |
| Serpinb11 |
T |
C |
1: 107,297,210 (GRCm39) |
F29L |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,828,337 (GRCm39) |
F1217S |
probably damaging |
Het |
| Slc18a2 |
A |
G |
19: 59,263,085 (GRCm39) |
D294G |
possibly damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,413,835 (GRCm39) |
T988A |
possibly damaging |
Het |
| Smndc1 |
A |
C |
19: 53,371,986 (GRCm39) |
|
probably null |
Het |
| Sned1 |
G |
A |
1: 93,192,795 (GRCm39) |
G361S |
probably damaging |
Het |
| Spatc1 |
A |
T |
15: 76,169,075 (GRCm39) |
|
probably null |
Het |
| Stab2 |
A |
T |
10: 86,796,180 (GRCm39) |
C356S |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,142,135 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,681,626 (GRCm39) |
E2668G |
probably damaging |
Het |
| Tigar |
A |
G |
6: 127,064,889 (GRCm39) |
V253A |
possibly damaging |
Het |
| Tmc2 |
T |
A |
2: 130,056,584 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
A |
T |
1: 87,983,769 (GRCm39) |
Y189F |
probably damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,214,680 (GRCm39) |
D221G |
probably damaging |
Het |
| Xkr5 |
C |
T |
8: 18,991,997 (GRCm39) |
V131M |
probably damaging |
Het |
|
| Other mutations in Ppp2r3d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00792:Ppp2r3d
|
APN |
9 |
101,088,500 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01122:Ppp2r3d
|
APN |
9 |
101,088,844 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02332:Ppp2r3d
|
APN |
9 |
101,057,602 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02653:Ppp2r3d
|
APN |
9 |
101,088,892 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03329:Ppp2r3d
|
APN |
9 |
101,003,630 (GRCm39) |
splice site |
probably benign |
|
|
IGL03351:Ppp2r3d
|
APN |
9 |
101,088,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
lank
|
UTSW |
9 |
101,075,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4480001:Ppp2r3d
|
UTSW |
9 |
101,003,576 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4687001:Ppp2r3d
|
UTSW |
9 |
101,021,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0243:Ppp2r3d
|
UTSW |
9 |
101,089,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Ppp2r3d
|
UTSW |
9 |
101,075,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1086:Ppp2r3d
|
UTSW |
9 |
101,031,021 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1215:Ppp2r3d
|
UTSW |
9 |
101,089,883 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1245:Ppp2r3d
|
UTSW |
9 |
101,071,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1458:Ppp2r3d
|
UTSW |
9 |
101,088,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Ppp2r3d
|
UTSW |
9 |
101,089,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1857:Ppp2r3d
|
UTSW |
9 |
101,090,092 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2029:Ppp2r3d
|
UTSW |
9 |
101,022,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Ppp2r3d
|
UTSW |
9 |
101,021,570 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2135:Ppp2r3d
|
UTSW |
9 |
101,088,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2180:Ppp2r3d
|
UTSW |
9 |
101,004,214 (GRCm39) |
nonsense |
probably null |
|
|
R3155:Ppp2r3d
|
UTSW |
9 |
101,089,559 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4190:Ppp2r3d
|
UTSW |
9 |
124,424,123 (GRCm38) |
unclassified |
probably benign |
|
|
R4657:Ppp2r3d
|
UTSW |
9 |
124,476,821 (GRCm38) |
missense |
unknown |
|
|
R4797:Ppp2r3d
|
UTSW |
9 |
101,089,179 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4829:Ppp2r3d
|
UTSW |
9 |
101,089,709 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5269:Ppp2r3d
|
UTSW |
9 |
101,031,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5498:Ppp2r3d
|
UTSW |
9 |
124,439,123 (GRCm38) |
unclassified |
probably benign |
|
|
R5820:Ppp2r3d
|
UTSW |
9 |
124,422,765 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5917:Ppp2r3d
|
UTSW |
9 |
101,089,183 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5939:Ppp2r3d
|
UTSW |
9 |
101,089,824 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6089:Ppp2r3d
|
UTSW |
9 |
101,088,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6254:Ppp2r3d
|
UTSW |
9 |
101,025,786 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6574:Ppp2r3d
|
UTSW |
9 |
101,071,584 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6776:Ppp2r3d
|
UTSW |
9 |
101,090,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6823:Ppp2r3d
|
UTSW |
9 |
124,439,078 (GRCm38) |
unclassified |
probably benign |
|
|
R6927:Ppp2r3d
|
UTSW |
9 |
101,052,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Ppp2r3d
|
UTSW |
9 |
124,439,080 (GRCm38) |
nonsense |
probably null |
|
|
R7162:Ppp2r3d
|
UTSW |
9 |
124,439,673 (GRCm38) |
missense |
|
|
|
R7189:Ppp2r3d
|
UTSW |
9 |
101,003,621 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7190:Ppp2r3d
|
UTSW |
9 |
101,089,726 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7288:Ppp2r3d
|
UTSW |
9 |
101,004,203 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7292:Ppp2r3d
|
UTSW |
9 |
101,089,871 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7512:Ppp2r3d
|
UTSW |
9 |
101,052,532 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7655:Ppp2r3d
|
UTSW |
9 |
101,088,911 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7656:Ppp2r3d
|
UTSW |
9 |
101,088,911 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7661:Ppp2r3d
|
UTSW |
9 |
124,442,696 (GRCm38) |
missense |
|
|
|
R7666:Ppp2r3d
|
UTSW |
9 |
124,440,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7769:Ppp2r3d
|
UTSW |
9 |
124,439,087 (GRCm38) |
missense |
|
|
|
R8174:Ppp2r3d
|
UTSW |
9 |
101,090,501 (GRCm39) |
start gained |
probably benign |
|
|
R8195:Ppp2r3d
|
UTSW |
9 |
101,090,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8236:Ppp2r3d
|
UTSW |
9 |
124,440,067 (GRCm38) |
missense |
|
|
|
R8344:Ppp2r3d
|
UTSW |
9 |
101,088,985 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8505:Ppp2r3d
|
UTSW |
9 |
124,439,084 (GRCm38) |
missense |
|
|
|
R8720:Ppp2r3d
|
UTSW |
9 |
101,089,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8765:Ppp2r3d
|
UTSW |
9 |
124,439,649 (GRCm38) |
missense |
|
|
|
R8775:Ppp2r3d
|
UTSW |
9 |
101,004,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8775-TAIL:Ppp2r3d
|
UTSW |
9 |
101,004,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8853:Ppp2r3d
|
UTSW |
9 |
101,090,110 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8958:Ppp2r3d
|
UTSW |
9 |
101,088,634 (GRCm39) |
missense |
probably benign |
|
|
R9069:Ppp2r3d
|
UTSW |
9 |
101,090,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9210:Ppp2r3d
|
UTSW |
9 |
101,063,175 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9212:Ppp2r3d
|
UTSW |
9 |
101,063,175 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9300:Ppp2r3d
|
UTSW |
9 |
124,423,977 (GRCm38) |
missense |
unknown |
|
|
R9404:Ppp2r3d
|
UTSW |
9 |
101,025,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9465:Ppp2r3d
|
UTSW |
9 |
124,442,222 (GRCm38) |
missense |
|
|
|
R9477:Ppp2r3d
|
UTSW |
9 |
124,476,857 (GRCm38) |
missense |
|
|
|
R9538:Ppp2r3d
|
UTSW |
9 |
124,424,007 (GRCm38) |
missense |
unknown |
|
|
R9545:Ppp2r3d
|
UTSW |
9 |
101,089,214 (GRCm39) |
missense |
probably benign |
|
|
R9639:Ppp2r3d
|
UTSW |
9 |
101,022,713 (GRCm39) |
missense |
probably benign |
|
|
R9649:Ppp2r3d
|
UTSW |
9 |
124,440,831 (GRCm38) |
missense |
|
|
|
X0020:Ppp2r3d
|
UTSW |
9 |
101,089,238 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1176:Ppp2r3d
|
UTSW |
9 |
101,003,588 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1177:Ppp2r3d
|
UTSW |
9 |
124,476,815 (GRCm38) |
missense |
unknown |
|
|
Z1177:Ppp2r3d
|
UTSW |
9 |
124,422,692 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCCATCTTCTGTGAGAATGATTC -3'
(R):5'- ACCTGTGCAGCTTCAGTCAC -3'
Sequencing Primer
(F):5'- CTTCTGTGAGAATGATTCCAAATCC -3'
(R):5'- GTGCAGCTTCAGTCACCGTTATTAAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation